Hereditary spastic paraplegia - childhood onsetGene: VAMP1
Adult and childhood onset. Single founder mutation in multiple families. Homozygous null alleles cause alternative phenotype.
Created: 10 May 2019, 10:49 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Red gene with Green and Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Red rating on Hereditary spastic paraplegia panel 1.198
Added 'founder effect' tag based on Emma Baple's review of PMID:22958904.
Rebecca Foulger (Genomics England curator), 24 Oct 2017
Comment on mode of inheritance: Monoallelic mode of inheritance supported by OMIM.
Rebecca Foulger (Genomics England curator), 12 Oct 2017
Comment when marking as ready: Newfoundland founder mutation described. Further evidence required Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012
emma baple (Genomics England Curator), 10 May 2016
Created: 2 May 2019, 4:59 p.m.
characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. multiple affected members of 4 large multigenerational families. In sheffield HSP panel
Created: 28 Apr 2019, 4:16 p.m.
Spastic ataxia 1, autosomal dominant, 108600
Source Expert Review Amber was added to VAMP1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Publications for gene: VAMP1 were set to 22958904
Source Yorkshire and North East GLH was added to VAMP1.
Gene: vamp1 has been classified as Red List (Low Evidence).
Gene: vamp1 has been classified as Green List (High Evidence).
Source NHS GMS was added to VAMP1.
Source London North GLH was added to VAMP1.
Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Rebecca Foulger: Comment on list classification
gene: VAMP1 was added gene: VAMP1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: VAMP1 were set to 22958904 Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600